Incidental Mutation 'IGL00848:Gpat3'
ID 8646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpat3
Ensembl Gene ENSMUSG00000029314
Gene Name glycerol-3-phosphate acyltransferase 3
Synonyms 4933407I02Rik, Agpat9, A230097K15Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # IGL00848
Quality Score
Status
Chromosome 5
Chromosomal Location 100994095-101046968 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101041010 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 357 (M357L)
Ref Sequence ENSEMBL: ENSMUSP00000108508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031255] [ENSMUST00000092990] [ENSMUST00000112887]
AlphaFold Q8C0N2
Predicted Effect probably benign
Transcript: ENSMUST00000031255
AA Change: M357L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000031255
Gene: ENSMUSG00000029314
AA Change: M357L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Blast:PlsC 99 160 7e-6 BLAST
low complexity region 166 177 N/A INTRINSIC
PlsC 223 334 5.96e-22 SMART
Blast:PlsC 348 396 2e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000092990
AA Change: M357L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000090667
Gene: ENSMUSG00000029314
AA Change: M357L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Blast:PlsC 99 160 7e-6 BLAST
low complexity region 166 177 N/A INTRINSIC
PlsC 223 334 5.96e-22 SMART
Blast:PlsC 348 396 2e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112887
AA Change: M357L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000108508
Gene: ENSMUSG00000029314
AA Change: M357L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Blast:PlsC 99 160 7e-6 BLAST
low complexity region 166 177 N/A INTRINSIC
PlsC 223 334 5.96e-22 SMART
Blast:PlsC 348 396 2e-22 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
PHENOTYPE: Under high-fat feeding, mice homozygous for a knock-out allele exhibit increased energy expenditure, improved glucose homeostasis, enlarged livers, increased total serum cholesterol levels, altered liver cholesterol metabolism, and female-specific protection from diet-induced obesity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,370,237 (GRCm39) F508L probably damaging Het
Adgra3 C T 5: 50,159,291 (GRCm39) G320R probably damaging Het
Arhgef40 G A 14: 52,224,884 (GRCm39) V10M probably damaging Het
Birc6 C T 17: 75,003,388 (GRCm39) Q4739* probably null Het
Cdcp3 A G 7: 130,848,453 (GRCm39) E869G probably damaging Het
Cdh20 C T 1: 104,861,981 (GRCm39) H54Y probably benign Het
Cep112 A G 11: 108,362,886 (GRCm39) D202G probably damaging Het
Cfhr2 T A 1: 139,758,970 (GRCm39) T27S probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Copa T A 1: 171,938,255 (GRCm39) C523S possibly damaging Het
Copz1 T A 15: 103,207,176 (GRCm39) probably benign Het
Crybg1 A C 10: 43,843,814 (GRCm39) probably null Het
Cyp3a11 A T 5: 145,799,275 (GRCm39) I304N probably damaging Het
Eif2d C T 1: 131,092,173 (GRCm39) Q315* probably null Het
Fgfr4 A G 13: 55,306,983 (GRCm39) E224G probably damaging Het
Fndc3b A T 3: 27,505,658 (GRCm39) L870Q probably damaging Het
Glt8d2 C T 10: 82,497,999 (GRCm39) probably null Het
Hrnr A T 3: 93,230,204 (GRCm39) K147N unknown Het
Kbtbd3 T A 9: 4,331,184 (GRCm39) S519R probably damaging Het
Kcnv1 A G 15: 44,976,624 (GRCm39) I221T probably benign Het
Khdrbs2 C T 1: 32,511,833 (GRCm39) A266V probably benign Het
Lmtk2 A G 5: 144,113,216 (GRCm39) E1312G probably benign Het
Mos T C 4: 3,871,459 (GRCm39) N119S probably damaging Het
Mtpap C T 18: 4,380,717 (GRCm39) H132Y probably benign Het
Myo18b G A 5: 113,019,351 (GRCm39) T642I probably damaging Het
Myo5c A G 9: 75,196,463 (GRCm39) E1303G probably benign Het
Napepld A T 5: 21,888,191 (GRCm39) M86K probably benign Het
Nvl T A 1: 180,932,690 (GRCm39) D709V probably damaging Het
Pak1ip1 A T 13: 41,166,099 (GRCm39) E341D probably benign Het
Pgghg G A 7: 140,522,317 (GRCm39) G32D probably damaging Het
Phlpp1 G A 1: 106,303,985 (GRCm39) R1096H probably damaging Het
Phlpp1 C T 1: 106,267,178 (GRCm39) T697M probably damaging Het
Piwil4 T G 9: 14,638,707 (GRCm39) T273P probably damaging Het
Pkd2l1 A T 19: 44,180,718 (GRCm39) probably benign Het
Polr3b A G 10: 84,516,241 (GRCm39) D623G probably damaging Het
Pop1 A G 15: 34,508,875 (GRCm39) T317A probably benign Het
Prune2 A T 19: 17,096,482 (GRCm39) K662I probably damaging Het
Ptger4 T C 15: 5,264,589 (GRCm39) I356V probably benign Het
Rhbdd1 T C 1: 82,318,165 (GRCm39) L16P possibly damaging Het
Rps11 C T 7: 44,772,925 (GRCm39) R22Q probably benign Het
Sfxn2 A T 19: 46,578,596 (GRCm39) I204F probably damaging Het
Slc26a9 C T 1: 131,685,266 (GRCm39) S365F probably damaging Het
Slc47a2 C T 11: 61,193,059 (GRCm39) V565M probably benign Het
Spns1 T C 7: 125,970,414 (GRCm39) probably null Het
Stk3 T A 15: 35,114,768 (GRCm39) E48V possibly damaging Het
Svs3b T C 2: 164,098,021 (GRCm39) E100G probably damaging Het
Tjp1 T C 7: 64,952,942 (GRCm39) Q1464R probably benign Het
Tspan10 T C 11: 120,335,096 (GRCm39) S69P probably benign Het
Usp32 T C 11: 84,942,007 (GRCm39) probably benign Het
Vps45 G T 3: 95,964,285 (GRCm39) probably benign Het
Zfp106 A T 2: 120,343,208 (GRCm39) N1790K probably damaging Het
Zfp704 A T 3: 9,630,299 (GRCm39) S21T possibly damaging Het
Other mutations in Gpat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1429:Gpat3 UTSW 5 101,040,953 (GRCm39) missense probably damaging 0.99
R1539:Gpat3 UTSW 5 101,031,254 (GRCm39) missense probably benign 0.00
R1830:Gpat3 UTSW 5 101,041,046 (GRCm39) missense probably benign
R2030:Gpat3 UTSW 5 101,045,687 (GRCm39) missense probably benign
R2440:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R2444:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R3039:Gpat3 UTSW 5 101,045,671 (GRCm39) missense possibly damaging 0.75
R3813:Gpat3 UTSW 5 101,039,505 (GRCm39) splice site probably benign
R3830:Gpat3 UTSW 5 101,032,252 (GRCm39) missense probably benign 0.02
R4636:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R4637:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R4679:Gpat3 UTSW 5 101,041,322 (GRCm39) missense probably damaging 1.00
R4792:Gpat3 UTSW 5 101,005,039 (GRCm39) missense probably benign
R5229:Gpat3 UTSW 5 101,031,290 (GRCm39) missense probably damaging 1.00
R5661:Gpat3 UTSW 5 101,033,808 (GRCm39) nonsense probably null
R6383:Gpat3 UTSW 5 101,041,010 (GRCm39) missense probably benign 0.01
R8064:Gpat3 UTSW 5 101,039,522 (GRCm39) missense probably benign 0.36
R8234:Gpat3 UTSW 5 101,005,076 (GRCm39) critical splice donor site probably null
R9047:Gpat3 UTSW 5 100,994,788 (GRCm39) missense probably benign 0.00
R9180:Gpat3 UTSW 5 101,032,230 (GRCm39) missense probably benign 0.00
X0023:Gpat3 UTSW 5 101,033,826 (GRCm39) missense possibly damaging 0.88
Posted On 2012-12-06